Gene: ACADVL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204016
rs118204016
ACADVL ; MIR324
A 0.810 CausalMutation CLINVAR

dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. 20060901

2010
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. 20480395

2010
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095

2012
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. 16950999

2006
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 7769092

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 4022672

1985
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 7769092

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. 8554073

1996